Mutagenetix > Incidental Mutation

Incidental Mutation 'R5119:Bank1'

392796

Institutional Source

Beutler Lab

Gene Symbol

Bank1

Ensembl Gene

ENSMUSG00000037922

Gene Name

B cell scaffold protein with ankyrin repeats 1

Synonyms

A530094C12Rik

MMRRC Submission

042707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135759124-136031827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135940443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 180 (I180K)

Ref Sequence

ENSEMBL: ENSMUSP00000142996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041577] [ENSMUST00000196159] [ENSMUST00000198206]

AlphaFold

Q80VH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041577
AA Change: I313K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: I313K

Domain	Start	End	E-Value	Type
DBB	197	327	1.24e-62	SMART
Blast:ANK	341	371	7e-12	BLAST
SCOP:d1awcb_	344	398	2e-4	SMART
Blast:ANK	377	407	2e-6	BLAST
coiled coil region	465	486	N/A	INTRINSIC
low complexity region	502	515	N/A	INTRINSIC
coiled coil region	560	583	N/A	INTRINSIC
low complexity region	609	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196159
AA Change: I180K

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: I180K

Domain	Start	End	E-Value	Type
DBB	64	194	1.24e-62	SMART
Blast:ANK	208	238	6e-12	BLAST
SCOP:d1awcb_	211	265	1e-4	SMART
Blast:ANK	244	274	3e-6	BLAST
coiled coil region	332	353	N/A	INTRINSIC
low complexity region	369	382	N/A	INTRINSIC
coiled coil region	427	450	N/A	INTRINSIC
low complexity region	476	489	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198034

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198206
AA Change: I180K

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: I180K

Domain	Start	End	E-Value	Type
DBB	64	194	5.9e-67	SMART
Blast:ANK	208	238	5e-12	BLAST
SCOP:d1awcb_	211	265	1e-4	SMART
Blast:ANK	244	274	2e-6	BLAST
low complexity region	300	313	N/A	INTRINSIC
coiled coil region	359	382	N/A	INTRINSIC
low complexity region	408	421	N/A	INTRINSIC

Meta Mutation Damage Score

0.2031

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (127/127)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased germinal center formation and IgM production in response to T-dependent antigens, and show enhanced CD40-mediated B cell proliferative and survival responses. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	C	A	2: 170,421,505 (GRCm39)	G125V	unknown	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts5	T	A	16: 85,696,466 (GRCm39)	R230S	probably benign	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Adgrv1	T	C	13: 81,567,546 (GRCm39)	Y5209C	possibly damaging	Het
Ahnak	G	T	19: 8,991,008 (GRCm39)	M4097I	probably benign	Het
Akap13	A	G	7: 75,337,000 (GRCm39)	T820A	probably damaging	Het
Als2cl	C	T	9: 110,719,887 (GRCm39)	R492C	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Arid4b	G	A	13: 14,338,866 (GRCm39)	V446M	probably benign	Het
Armc2	A	G	10: 41,798,144 (GRCm39)	L794P	probably damaging	Het
Atp6v0a1	T	A	11: 100,911,341 (GRCm39)	M80K	probably benign	Het
Aup1	T	C	6: 83,032,115 (GRCm39)	V94A	probably damaging	Het
Becn1	A	G	11: 101,182,221 (GRCm39)	L116P	probably damaging	Het
Bsg	A	G	10: 79,546,057 (GRCm39)		probably benign	Het
Camk2a	A	T	18: 61,076,208 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,914,603 (GRCm39)	E706G	possibly damaging	Het
Cdk8	A	T	5: 146,220,437 (GRCm39)		probably null	Het
Cpne4	A	G	9: 104,778,720 (GRCm39)		probably null	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cyp2c38	C	A	19: 39,449,065 (GRCm39)	G96V	probably damaging	Het
Dhx40	A	G	11: 86,667,462 (GRCm39)	I261T	probably damaging	Het
Dnah10	T	C	5: 124,856,322 (GRCm39)	F2038L	probably damaging	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Dtl	G	T	1: 191,273,618 (GRCm39)	A430D	probably damaging	Het
Ece2	T	C	16: 20,437,381 (GRCm39)	L241P	probably damaging	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Eppin	T	C	2: 164,431,371 (GRCm39)	Y85C	probably damaging	Het
Fam171a2	G	A	11: 102,329,559 (GRCm39)	A400V	probably damaging	Het
Fem1c	A	C	18: 46,639,436 (GRCm39)	C189G	probably damaging	Het
Frmd4b	A	G	6: 97,277,275 (GRCm39)	V560A	probably benign	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Gabbr1	T	C	17: 37,359,330 (GRCm39)	S102P	probably damaging	Het
Garin3	G	A	11: 46,297,863 (GRCm39)	G389D	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Gm30275	T	C	14: 54,312,978 (GRCm39)		probably benign	Het
Gm9762	A	T	3: 78,873,707 (GRCm39)		noncoding transcript	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Gps2	A	G	11: 69,805,617 (GRCm39)	K45R	probably benign	Het
Gramd2a	A	G	9: 59,621,603 (GRCm39)		probably benign	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Ifi204	A	T	1: 173,583,234 (GRCm39)	I328N	probably damaging	Het
Igsf3	T	A	3: 101,346,677 (GRCm39)		probably null	Het
Il1rap	T	C	16: 26,442,949 (GRCm39)	I15T	probably benign	Het
Il23r	A	T	6: 67,443,300 (GRCm39)	C268S	probably damaging	Het
Irx4	A	G	13: 73,417,040 (GRCm39)	T479A	probably benign	Het
Kcnk7	G	A	19: 5,756,352 (GRCm39)	V193I	probably benign	Het
Kcnt1	G	T	2: 25,799,334 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 64,994,902 (GRCm39)	C885G	probably benign	Het
Kif21b	C	A	1: 136,090,838 (GRCm39)	D1215E	probably benign	Het
Klhdc2	A	G	12: 69,343,736 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,924,050 (GRCm39)	N486S	probably benign	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrps28	C	T	3: 8,988,756 (GRCm39)	G34D	possibly damaging	Het
Myh8	A	G	11: 67,189,184 (GRCm39)	E1120G	probably damaging	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Nlgn1	A	T	3: 25,487,958 (GRCm39)	D763E	probably damaging	Het
Or11g26	T	C	14: 50,752,966 (GRCm39)	F102L	probably benign	Het
Or13c7c	G	T	4: 43,836,433 (GRCm39)	A19D	probably benign	Het
Or1e17	A	T	11: 73,831,378 (GRCm39)	Y102F	possibly damaging	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or5b118	C	T	19: 13,448,910 (GRCm39)	T192I	probably benign	Het
Or6c8b	T	A	10: 128,882,711 (GRCm39)	I74F	possibly damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcbp1	G	A	6: 86,501,897 (GRCm39)	A334V	probably damaging	Het
Pclaf	T	C	9: 65,798,062 (GRCm39)	V32A	probably benign	Het
Pga5	T	A	19: 10,654,053 (GRCm39)	H50L	probably benign	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Pik3ap1	C	T	19: 41,270,415 (GRCm39)	R758H	probably benign	Het
Plekha1	A	G	7: 130,507,094 (GRCm39)		probably benign	Het
Plekhm1	A	T	11: 103,278,141 (GRCm39)	N318K	possibly damaging	Het
Ppargc1b	G	A	18: 61,440,725 (GRCm39)	A731V	probably benign	Het
Pptc7	T	C	5: 122,451,844 (GRCm39)	V100A	possibly damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Prrc2c	T	C	1: 162,533,009 (GRCm39)		probably benign	Het
Psmb1	T	C	17: 15,718,524 (GRCm39)	M1V	probably null	Het
Ptpn3	A	G	4: 57,218,513 (GRCm39)	F650S	possibly damaging	Het
Ranbp17	A	T	11: 33,354,181 (GRCm39)	*577R	probably null	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Rgl2	T	A	17: 34,156,094 (GRCm39)	H727Q	probably benign	Het
Rhpn2	A	G	7: 35,070,549 (GRCm39)	T160A	probably damaging	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 92,007,444 (GRCm39)	E382G	probably damaging	Het
Rxrb	T	C	17: 34,252,562 (GRCm39)	S50P	probably benign	Het
Scn4b	A	T	9: 45,059,056 (GRCm39)	E109V	probably damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Slc22a29	A	T	19: 8,195,194 (GRCm39)	V147D	probably damaging	Het
Slc4a4	A	T	5: 89,102,721 (GRCm39)	E53V	probably null	Het
Slx4	A	G	16: 3,819,063 (GRCm39)	S37P	possibly damaging	Het
Spag9	G	A	11: 94,013,548 (GRCm39)	G1127D	probably damaging	Het
Srek1	T	A	13: 103,889,064 (GRCm39)		probably benign	Het
Supt5	G	T	7: 28,015,795 (GRCm39)	P849Q	probably damaging	Het
Tex14	T	C	11: 87,324,639 (GRCm39)	S2P	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tll2	A	G	19: 41,118,948 (GRCm39)	V260A	possibly damaging	Het
Tlr6	A	G	5: 65,111,644 (GRCm39)	V421A	probably benign	Het
Tmc3	T	G	7: 83,264,218 (GRCm39)	C649G	probably damaging	Het
Tnn	A	G	1: 159,948,122 (GRCm39)	W864R	probably damaging	Het
Tsc2	A	C	17: 24,822,254 (GRCm39)	V1095G	probably benign	Het
Vmn1r124	C	T	7: 20,994,172 (GRCm39)	G124D	probably damaging	Het
Vmn2r116	T	C	17: 23,606,138 (GRCm39)	V350A	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wrap53	T	A	11: 69,454,758 (GRCm39)	M204L	possibly damaging	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het
Zfp687	A	T	3: 94,918,987 (GRCm39)	S262T	probably benign	Het
Zfp831	T	A	2: 174,547,103 (GRCm39)	S1429T	probably benign	Het
Znfx1	G	A	2: 166,907,307 (GRCm39)		probably benign	Het

Other mutations in Bank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Bank1	APN	3	135,953,395 (GRCm39)	missense	probably damaging	0.99
IGL03088:Bank1	APN	3	135,799,123 (GRCm39)	missense	probably damaging	0.98
IGL03190:Bank1	APN	3	135,806,185 (GRCm39)	missense	probably damaging	1.00
I2289:Bank1	UTSW	3	135,760,179 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Bank1	UTSW	3	135,806,180 (GRCm39)	missense	probably damaging	1.00
R0193:Bank1	UTSW	3	135,772,279 (GRCm39)	splice site	probably benign
R0423:Bank1	UTSW	3	135,989,778 (GRCm39)	missense	possibly damaging	0.68
R0518:Bank1	UTSW	3	135,919,703 (GRCm39)	missense	probably damaging	1.00
R0521:Bank1	UTSW	3	135,919,703 (GRCm39)	missense	probably damaging	1.00
R0587:Bank1	UTSW	3	135,919,798 (GRCm39)	splice site	probably benign
R0628:Bank1	UTSW	3	135,772,151 (GRCm39)	missense	probably damaging	1.00
R0723:Bank1	UTSW	3	135,760,164 (GRCm39)	splice site	probably null
R0811:Bank1	UTSW	3	135,799,127 (GRCm39)	missense	probably damaging	1.00
R0812:Bank1	UTSW	3	135,799,127 (GRCm39)	missense	probably damaging	1.00
R1101:Bank1	UTSW	3	135,989,625 (GRCm39)	missense	probably benign	0.08
R1446:Bank1	UTSW	3	135,769,904 (GRCm39)	missense	probably damaging	1.00
R1564:Bank1	UTSW	3	135,919,602 (GRCm39)	nonsense	probably null
R1636:Bank1	UTSW	3	135,788,987 (GRCm39)	missense	probably damaging	1.00
R1667:Bank1	UTSW	3	135,799,057 (GRCm39)	missense	probably damaging	1.00
R1751:Bank1	UTSW	3	135,960,698 (GRCm39)	missense	probably benign	0.00
R1751:Bank1	UTSW	3	135,940,375 (GRCm39)	missense	probably benign	0.00
R2023:Bank1	UTSW	3	136,031,679 (GRCm39)	missense	probably benign	0.02
R2851:Bank1	UTSW	3	135,948,701 (GRCm39)	missense	possibly damaging	0.92
R2852:Bank1	UTSW	3	135,948,701 (GRCm39)	missense	possibly damaging	0.92
R3411:Bank1	UTSW	3	135,953,534 (GRCm39)	splice site	probably benign
R4422:Bank1	UTSW	3	135,788,972 (GRCm39)	missense	probably damaging	0.99
R4499:Bank1	UTSW	3	135,990,004 (GRCm39)	missense	probably benign	0.44
R4693:Bank1	UTSW	3	135,953,437 (GRCm39)	missense	probably damaging	0.99
R4744:Bank1	UTSW	3	135,953,450 (GRCm39)	missense	probably benign	0.12
R4791:Bank1	UTSW	3	135,960,690 (GRCm39)	missense	probably benign	0.00
R4911:Bank1	UTSW	3	135,990,004 (GRCm39)	missense	probably benign	0.44
R4967:Bank1	UTSW	3	135,772,134 (GRCm39)	missense	probably damaging	1.00
R4979:Bank1	UTSW	3	135,960,662 (GRCm39)	missense	probably damaging	0.99
R5284:Bank1	UTSW	3	135,769,915 (GRCm39)	missense	probably damaging	1.00
R5547:Bank1	UTSW	3	135,772,110 (GRCm39)	missense	probably damaging	0.99
R5610:Bank1	UTSW	3	135,772,148 (GRCm39)	missense	probably damaging	1.00
R6012:Bank1	UTSW	3	135,919,598 (GRCm39)	missense	probably benign	0.44
R6087:Bank1	UTSW	3	135,772,190 (GRCm39)	missense	probably damaging	1.00
R6753:Bank1	UTSW	3	135,799,069 (GRCm39)	missense	probably damaging	1.00
R6764:Bank1	UTSW	3	135,948,701 (GRCm39)	missense	probably damaging	0.97
R6861:Bank1	UTSW	3	135,960,764 (GRCm39)	missense	probably benign	0.33
R7013:Bank1	UTSW	3	135,806,270 (GRCm39)	missense	possibly damaging	0.74
R7436:Bank1	UTSW	3	135,761,561 (GRCm39)	missense	possibly damaging	0.76
R7918:Bank1	UTSW	3	135,799,123 (GRCm39)	missense	probably damaging	0.98
R8262:Bank1	UTSW	3	135,948,721 (GRCm39)	missense	probably benign	0.01
R8321:Bank1	UTSW	3	135,940,395 (GRCm39)	missense	possibly damaging	0.91
R8822:Bank1	UTSW	3	135,809,640 (GRCm39)	missense	possibly damaging	0.95
R8937:Bank1	UTSW	3	135,989,934 (GRCm39)	missense	probably damaging	1.00
R8995:Bank1	UTSW	3	135,772,264 (GRCm39)	missense	possibly damaging	0.74
R9010:Bank1	UTSW	3	135,761,559 (GRCm39)	missense	probably benign	0.01
R9069:Bank1	UTSW	3	135,989,772 (GRCm39)	missense	probably benign	0.02
R9327:Bank1	UTSW	3	135,799,308 (GRCm39)	missense	probably benign	0.01
V1662:Bank1	UTSW	3	135,760,179 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGGCATGAGTGTGCATAG -3'
(R):5'- ATGTCCCACTCCTAACATCATG -3'

Sequencing Primer
(F):5'- TGTTCTACTTCAAGAGCAAGGAG -3'
(R):5'- GTCCCACTCCTAACATCATGTCTTTC -3'

Posted On

2016-06-15